Decreased osteogenic activity and mineralization of alveolar bone cells from a patient with amelogenesis imperfecta and FAM83H 1261G>T mutation.

ABSTRACT: FAM83H mutations lead to autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI). However, the biological role of FAM83H remains unclear. The present study aimed to characterize the alveolar bone cells isolated from a patient with ADHCAI having the mutation, c.1261G > T, p.E421*, in FAM83H. We showed that FAM83H mutant cells had proliferation ability and morphology similar to the controls. The F-actin staining revealed that FAM83H mutant cells were remained in the earlier stages of cell spreading compared to the controls at 30 min, but their spreading was advanced comparable to the controls at later stages. After osteogenic induction, a significant decrease in mRNA levels of RUNX2 and ALP was observed in FAM83H mutant cells

SUBMITTER: Nowwarote N 

PROVIDER: S-EPMC6889029 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature